Canonical Allele Identifier: CA419883051

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115220100C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677479C>T , CM000663.2:g.114677479C>T	GRCh38
NC_000001.10:g.115220100C>T , CM000663.1:g.115220100C>T	GRCh37
NC_000001.9:g.115021623C>T	NCBI36
NG_008012.1:g.23077G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1248G>A	ENSP00000358551.4:p.Gln416=
ENST00000520113.7:c.1260G>A MANE Select	ENSP00000430075.3:p.Gln420=
ENST00000637080.1:c.1043G>A	ENSP00000489753.1:n.1043G>A
ENST00000639077.1:n.925G>A
ENST00000369538.3:c.1347G>A	ENSP00000358551.3:p.Gln449=
ENST00000520113.6:c.1359G>A	ENSP00000430075.2:p.Gln453=
NM_000036.2:c.1359G>A	NP_000027.2:p.Gln453=
NM_001172626.1:c.1347G>A	NP_001166097.1:p.Gln449=
NM_000036.3:c.1260G>A MANE Select	NP_000027.3:p.Gln420=
NM_001172626.2:c.1248G>A	NP_001166097.2:p.Gln416=